Variant Details for DENND5A
Basic Information Top
| Gene Symbol: | DENND5A ( FLJ22354,FLJ33829,FLJ43455,KIAA1091,RAB6IP1 ) |
|---|---|
| Gene Full Name: | DENN/MADD domain containing 5A |
| Band: | 11p15.4 |
| Quick Links | Entrez ID:23258; OMIM: NA; Uniprot ID:DEN5A_HUMAN; ENSEMBL ID: ENSG00000184014; HGNC ID: 19344 |
| Relate to Another Database: | SFARIGene; denovo-db |
Variant Statistic TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default. Chromosome coordinates: hg19
| Genetic Category | CNVs/SVs | de novo Mutations | Mosaics SNVs | NGS Other Mutations | Low-Scale Gene Mutations | Linkage Regions | Total |
|---|---|---|---|---|---|---|---|
| Number | 1 | 3 | 0 | 0 | 0 | 0 | 4 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0004409 | 11 | 11p15.4 | 6969479 | 9255246 | 2285767 | gain | external link | Nord, 2011 |
NGS de novo Mutations TopiFish (integrated Functional inference of SNVs in human) is based on gene/gene family customized models to classify missense mutations.
| Chr | Pos | Ref | Alt | Coding | AA | Validated Method | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 11 | 9163520 | C | T | c.3647G>A | p.Gly1216Asp | Sanger sequencing | deleterious | 0.9726 | Neale BM, 2012 |
| 11 | 9163520 | C | T | Sanger sequencing | deleterious | 0.9726 | De Rubeis S, 2014 | ||
| 11 | 9172264 | T | C | Sanger sequencing | deleterious | 0.8683 | De Rubeis S, 2014 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| No related data! | ||||||
NGS Other Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
Low-Scale Gene Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||